Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE Metabolic effects of LYPLAL1 rs12137855-C were similar, but statistically less robust, to the effects of GCKR rs1260326-T. TM6SF2 rs58542926-T displayed opposite metabolic effects when compared with the fatty liver associations. 29648650

2018

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The presence of the minor PNPLA3 p.I148M risk allele increased the risk of developing NAFLD (OR = 3.29, P < 0.001) and was associated with higher steatosis, fibrosis, and serum CK18-M30 levels (all P < 0.05). 29483677

2018

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Donor PNPLA3 rs738409 genotype is a risk factor for graft steatosis. A post-transplant biopsy-based study. 29396131

2018

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The p.I148M variant leads to macrovescicular steaosis and predisposes to liver disorders from steatohepatitis to fibrosis. 30308089

2018

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Since DAG (FA18:1) has been implicated in hepatic insulin resistance, the unaltered proportion of DAG (FA18:1) in I148M PNPLA3 carriers with fatty liver may explain the normal insulin sensitivity in these subjects. 30227635

2018

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE PNPLA3 rs738409 Polymorphism Predicts Development and Severity of Hepatic Steatosis but Not Metabolic Syndrome in Celiac Disease. 30189691

2018

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Although the PNPLA3 rs738409 G allele has been associated with the risk of steatosis in CHB patients, no association between this polymorphism and the risk of cirrhosis was seen. 29218813

2018

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE PNPLA3 rs738409, GCKR rs780094 and TM6SF2 rs58542926 variants were independent risk factors of hepatic steatosis and elevated ALT levels. 29314568

2018

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE One year after LT, steatosis was present in 50.0% of homozygous recipients with the rs738409-G allele. 28718984

2018

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The PNPLA3 rs738409 GG donor genotype affects liver steatosis and steatohepatitis risk following living-donor LT. 28574625

2018

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE This patient exhibited liver steatosis; he was neither diabetic, nor obese or alcoholic, but is a carrier of 2 polymorphisms, p.Ile148Met (rs738409) and p.Glu167Lys (rs58542926) on PNPLA3 and TM6SF2 gene, respectively, previously shown to be associated with nonalcoholic steatosis and fibrosis evolution. 28711549

2018

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE In conclusion, the TM6SF2 E167K variant promotes the development of steatosis, fibrosis and cirrhosis in patients with chronic hepatitis C. Conversely, this variant reduces circulating atherogenic lipid fractions. 28839198

2017

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE The associations between the rs738409 PNPLA3 gene polymorphism and steatosis and advanced fibrosis were tested under a recessive inheritance model using logistic regression analysis, including age, gender, BMI, ethnicity/color, HOMA-IR, alcohol intake, HCV genotype 3, and the rs58542926 TM6SF2 gene polymorphism as covariates. 29258449

2017

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The PNPLA3 rs738409 GG genotype is positively associated with HS, while the IFNL3 rs 12979860 CC genotype may be negatively associated with HS, in Asian CHC patients. 28797039

2017

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE However, its association with non-invasive ultrasound- and magnetic resonance (MR)-based markers of liver fibrosis and steatosis, the enhanced liver fibrosis (ELF) score, liver biopsy, as well as rs738409 in PNPLA3, has not been elucidated in NAFLD, so far. 28914407

2017

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE In children with NAFLD, the risk of severe steatosis is increased by SGA at birth, independent of and in addition to other powerful risk factors (insulin-resistance and I148M variant of the PNPLA3 gene). 28555633

2017

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Using a 443 patient training set, protein biomarker discovery was performed using the highly multiplexed SOMAscan<sup>®</sup> proteomic assay, a set of 19 clinical variables, and the steatosis predisposing PNPLA3 rs738409 single nucleotide polymorphism genotype status. 28266614

2017

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE We determined the frequency of PNPLA3 (rs738409), CSPG3/NCAN (rs2228603), GCKR (rs780094), PPP1R3B (rs4240624), TM6SF (rs8542926), LYPLAL1 (rs12137855) and MBOAT7 (rs626283) by RT-PCR in 117 HIV-positive patients on cART and stratified participants based on their "controlled attenuation parameter" (CAP) into probable (CAP: 215-300 dB/m) and definite (CAP >300 dB/m) hepatic steatosis. 28594920

2017

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Associations between the rs738409 polymorphism of the PNPLA3 gene genotype GG and hepatic steatosis and advanced fibrosis were observed. 29258449

2017

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The genetic polymorphism I148M of the patatin-like phospholipase domain-containing 3 (PNPLA3) is associated with hepatic steatosis and its progression to steatohepatitis (NASH), fibrosis and cancer. 29116096

2017

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Among 270 HBV-infected patients, concurrent fatty liver was found in 107 patients (39.6%) and was associated with metabolic risks, cirrhosis (P = 0.016) and PNPLA3 rs738409 CG/GG genotype (P = 0.002). 27547913

2017

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE Furthermore, the low-frequency E167K variant of TM6SF2 and rare mutations in APOB, which impair very low-density lipoproteins secretion, predispose to progressive fatty liver. 26409295

2016

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE Reduction of Caloric Intake Might Override the Prosteatotic Effects of the PNPLA3 p.I148M and TM6SF2 p.E167K Variants in Patients with Fatty Liver: Ultrasound-Based Prospective Study. 26745555

2016

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE The Glu167Lys (E167K) transmembrane 6 superfamily member 2 (TM6SF2) variant has been associated with liver steatosis, high alanine transaminase (ALT) levels and reduced plasma levels of liver-derived triglyceride-rich lipoproteins. 25893821

2016

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE After adjustment for age, gender, body mass index and homoeostasis model assessment score, steatosis severity was independently associated with IL28B rs12979860 (odds ratio [OR] 0.69, 95% confidence interval [CI] 0.55-0.86, P = 0.001) and PNPLA3 rs738409 (OR 1.84, 95% CI 1.46-2.83, P < 0.001), but not TM6SF2 rs58542926 (OR 1.48, 95% CI 0.82-2.69, P = 0.19). 26259026

2016